Association of Two Polymorphisms in H2B.W Gene with Azoospermia and Severe Oligozoospermia in An Iranian Population

Background: During spermatogenesis, the H2B family, member W (H2B.W) gene, encodes a testis specific histone that is co-localized with telomeric sequences and has the potential role to mediate the sperm-specific chromatin remodeling. Previously H2B.W genetic variants were reported to be involved in susceptibility to spermatogenesis impairment. In the present study, two single nucleotide polymorphisms (SNPs) in 5?UTR and exon 1 of H2B.W gene were examined to investigate possible association of these polymorphisms with male infertility in Iranian population. Materials and Methods: This case control study was conducted in Royan institute during four-year period (2010–2013). Genetic alteration of two SNPs loci, ?9C > T and 368A > G, in H2B.W gene were indicated in 92 infertile men who were divided into two main groups including azoospermia (n=46) and sever oligozoospermia (n=46), while there was 60 fertile men as control group. Azoosperima was also divided into three sub-groups including sertoli cell only syndrome (SCOS, n=21), complete maturation arrest (CMA, n=17) and hypo spermatogenesis (n=8) according to testicular biopsy. For analysis, polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was applied. Results: The frequency of allele ?9T was significantly higher in CMA group than in patients with SCOS (P < 0.05). The haplotype TA (corresponding to simultaneous occurrence of ?9T and 368A) compared with haplotype CA (corresponding to simultaneous occurrence of ?9C and 368A) in patients suffering from CMA significantly increased, compared with patients had SCOS (P < 0.05). However, statistical studies indicated that in general, the distribution frequencies of ?9C > T and 368A > G had no significant difference between the infertile groups and control (P=0.859 and P=0.812, respectively). Conclusion: This investigation showed that SNP ?9C > T might be contribute to CMA in azoospermic patients and SNP 368A > G had no correlation with male infertility in Iranian population.